C1292231[trait identifier] AND "OMIM"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 40066	NM_006563.5(KLF1):c.1071C>A (p.His357Gln)	KLF1 (H357Q)	Single nucleotide variant (missense variant)	BLOOD GROUP--LUTHERAN INHIBITOR	GPathogenic
Select item 40065	NM_006563.5(KLF1):c.977T>G (p.Leu326Arg)	KLF1, LOC117125591 (L326R)	Single nucleotide variant (missense variant)	BLOOD GROUP--LUTHERAN INHIBITOR	GPathogenic
Select item 18447	NM_006563.5(KLF1):c.973G>A (p.Glu325Lys)	KLF1, LOC117125591 (E325K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 8999	NM_006563.5(KLF1):c.954dup (p.Arg319fs)	KLF1, LOC117125591 (R319fs)	Duplication (frameshift variant)	BLOOD GROUP--LUTHERAN INHIBITOR	GPathogenic
Select item 9002	NM_006563.5(KLF1):c.895C>T (p.His299Tyr)	KLF1, LOC117125591 (H299Y)	Single nucleotide variant (missense variant)	BLOOD GROUP--LUTHERAN INHIBITOR	GPathogenic
Select item 9001	NM_006563.5(KLF1):c.874A>T (p.Lys292Ter)	KLF1, LOC117125591 (K292*)	Single nucleotide variant (nonsense)	BLOOD GROUP--LUTHERAN INHIBITOR	GPathogenic
Select item 40067	NM_006563.5(KLF1):c.591C>G (p.Tyr197Ter)	KLF1, LOC130063673 (Y197*)	Single nucleotide variant (nonsense)	BLOOD GROUP--LUTHERAN INHIBITOR	GPathogenic
Select item 9000	NM_006563.5(KLF1):c.569del (p.Pro190fs)	KLF1, LOC130063673 (P190fs)	Deletion (frameshift variant)	BLOOD GROUP--LUTHERAN INHIBITOR	GPathogenic
Select item 2087	NM_000159.4(GCDH):c.91+5G>T	GCDH, KLF1 +1 more	Single nucleotide variant (intron variant)	Glutaric aciduria, type 1 +3 more	GPathogenic